UMD-THAP1 LSDB
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
http://www.umd.be/THAP1
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资源简介：
UMD-THAP1 LSDB lists 56 probands and 43 relatives with the associated clinical phenotype when available util 2011. It contains the identification of a larger number of THAP1 mutations and collection of high-quality clinical information for each described mutation through international collaborative effort
提供机构：
INSERM U827
创建时间：
2018-01-27
